Fukushima Hiroko, Yamasaki Kai, Sakaida Miho, Tsujio Nozomi, Okuno Takahiro, Ishii Naomi, Okada Keiko, Fujisaki Hiroyuki, Matsusaka Yasuhiro, Sakamoto Hiroaki, Yoneda Akihiro, Hara Junichi, Inoue Takeshi
Department of Pathology, Osaka City Juso Hospital, Osaka, Japan.
Department of Pathology, Osaka City General Hospital, Osaka, Japan.
Pathol Int. 2021 Feb;71(2):155-160. doi: 10.1111/pin.13056. Epub 2020 Dec 30.
We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2-year-old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21-q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late-onset rhabdoid tumor of the kidney.
我们报告一例横纹肌样瘤易感综合征病例，该患者在脑肿瘤发生10年后出现肾肿瘤，但其预后出乎意料地良好。一名2岁男孩接受了位于第四脑室的脑肿瘤全切手术，并接受了辅助化疗和放疗。11岁时，发现肾肿瘤并进行了肾切除术。他目前健在，术后未接受治疗，已无疾病迹象超过2年。组织学检查显示，脑肿瘤和肾肿瘤中均观察到横纹肌样细胞。在两种肿瘤细胞的细胞核中均发现SMARCB1（也称为INI1）表达缺失。基因检测显示，肾肿瘤中SMARCB1外显子5存在致病性变异，脑肿瘤中SMARCB1外显子9存在致病性变异。此外，两种肿瘤均存在包含SMARCB1基因座的22q11.21-q11.23杂合缺失，且在正常外周血中也检测到该缺失。综合组织病理学和遗传学结果，我们认为该病例为伴有非典型畸胎样/横纹肌样瘤和迟发性肾横纹肌样瘤的横纹肌样瘤易感综合征。
